E339K (p.Glu339Lys) variant of SMC1A (Q14683)
E339K (p.Glu339Lys) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
E339K (p.Glu339Lys) variant details
- p.Glu339Lys
- gnomAD rs1556890600
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- ESM-1b 1.00
- AlphaMissense 0.92
- Structural context available